Canonical Allele Identifier: CA144753

Gene: NFKB2

Linked Data

• ClinVar Variation Id: 65385
• ClinVar RCV Id: RCV000055612 ; RCV000077761 ; RCV001093426 ; RCV001174741 ; RCV001027606
• dbSNP Id: rs397514332
• gnomAD v4: 10-102402138-C-T
• MyVariant Identifiers: chr10:g.104161895C>T (hg19) ; chr10:g.102402138C>T (hg38)
• PubMed: PMID:24140114 ; PMID:25524009

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102402138C>T , CM000672.2:g.102402138C>T	GRCh38
NC_000010.10:g.104161895C>T , CM000672.1:g.104161895C>T	GRCh37
NC_000010.9:g.104151885C>T	NCBI36
NG_033874.1:g.13029C>T
NG_033874.2:g.13029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697883.1:n.1507C>T
ENST00000697884.1:n.823C>T
ENST00000697920.1:n.308-198C>T
ENST00000189444.11:c.2557C>T	ENSP00000189444.6:p.Arg853Ter
ENST00000369966.8:c.2557C>T	ENSP00000358983.3:p.Arg853Ter
ENST00000428099.6:c.2557C>T	ENSP00000410256.1:p.Arg853Ter
ENST00000651907.1:n.66C>T
ENST00000652277.1:c.2557C>T	ENSP00000498308.1:p.Arg853Ter
ENST00000661543.1:c.2557C>T MANE Select	ENSP00000499294.1:p.Arg853Ter
ENST00000189444.10:c.2557C>T	ENSP00000189444.6:p.Arg853Ter
ENST00000369966.7:c.2557C>T	ENSP00000358983.3:p.Arg853Ter
ENST00000428099.5:c.2557C>T	ENSP00000410256.1:p.Arg853Ter
NM_001077494.3:c.2557C>T	NP_001070962.1:p.Arg853Ter
NM_001261403.2:c.2557C>T	NP_001248332.1:p.Arg853Ter
NM_001288724.1:c.2557C>T	NP_001275653.1:p.Arg853Ter
NM_002502.5:c.2557C>T	NP_002493.3:p.Arg853Ter
XM_005269860.1:c.2557C>T	XP_005269917.1:p.Arg853Ter
XM_005269861.3:c.2557C>T	XP_005269918.1:p.Arg853Ter
XM_011539830.1:c.2122C>T	XP_011538132.1:p.Arg708Ter
XM_011539831.1:c.2122C>T	XP_011538133.1:p.Arg708Ter
NM_001322934.1:c.2557C>T	NP_001309863.1:p.Arg853Ter
NM_001322935.1:c.2431C>T	NP_001309864.1:p.Arg811Ter
XM_011539830.3:c.2122C>T	XP_011538132.1:p.Arg708Ter
XM_011539831.2:c.2122C>T	XP_011538133.1:p.Arg708Ter
XM_017016278.1:c.3100C>T	XP_016871767.1:p.Arg1034Ter
XM_024448026.1:c.2431C>T	XP_024303794.1:p.Arg811Ter
XM_024448027.1:c.1492C>T	XP_024303795.1:p.Arg498Ter
NM_001261403.3:c.2557C>T	NP_001248332.1:p.Arg853Ter
NM_001322934.2:c.2557C>T MANE Select	NP_001309863.1:p.Arg853Ter
NM_002502.6:c.2557C>T	NP_002493.3:p.Arg853Ter